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A Case-Based Assistant for Diagnosis and Analysis of Dysmorphic Syndromes

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A Case-Based Assistant for Diagnosis and Analysis of Dysmorphic Syndromes A Case-Based Assistant for Diagnosis and Analysis of Dysmorphic Syndromes Carl David Evans A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy of the University of London Department of Computer Science University College London 1994 ProQuest Number: 10017424 All rights reserved INFORMATION TO ALL USERS The quality of this reproduction is dependent upon the quality of the copy submitted. In the unlikely event that the author did not send a complete manuscript and there are missing pages, these will be noted. Also, if material had to be removed, a note will indicate the deletion. uest. ProQuest 10017424 Published by ProQuest LLC(2016). Copyright of the Dissertation is held by the Author. All rights reserved. This work is protected against unauthorized copying under Title 17, United States Code. Microform Edition © ProQuest LLC. ProQuest LLC 789 East Eisenhower Parkway P.O. Box 1346 Ann Arbor, Ml 48106-1346 A bstract Dysmorphology is a field of medicine which has as one of its concerns the diagnosis of children bom with multiple malformations. A pattern of malformations recognised as occurring together and thought to be pathogenetically related is collectively czdled a dysmorphic 'syndrome'. Abnormalities (dysmorphic features) may pertain to clinical, ra­ diological, biochemical, histological or chromosomal defects. This diversity is reflected in the source of diagnostic expertise, which is relatively sparse and is provided by specialists &om varying disciplines such as clinical medicine, genetics and radiology. Approximately 8 in 1000 of children are bom with multiple malformations, and about half of these infants will be linked with a chromosomal disorder (diagnosed by performing a karyotype). Of the rest, diagnosis (to recognised syndromes) is more difflcult and is a task performed by experienced specialists. Diagnosis is not always possible. About forty per cent of cases remain undiagnosed with respect to known disorders, and recognition of new syndromes is an important facet of dysmorphology. To assist such investigation, the physician has at hand reference sources such as joumals, syndrome compendia, and more recently, computer databases. Whilst databases may assist diagnosis, the functions performed by specialists that invovle learning new syndromes have not been automated to any degree. This aspect provides the focus for this resesu’ch. The diagnosis and learning tasks of dysmorphology map intuitively with ideas from artificial intelligence: case-based reasoning (CBR) and learning (CBL). The thesis reports on the utilisation of a case-based approach in order to develop a diagnostic aid with an explicit goal of automating the learning aspect of dysmorphology. The initial focus of the research concerns the development of a case-based learning algorithm which simu­ lates the learning processes that exist in dysmorphology, and which provides the basis for a dynamic case-based architecture. The thesis proceeds in view of relevant problems and issues highlighted by these experiments when viewed in the context of developing a realistic model for a CBR system within dysmorphology. This includes an investiga­ tion of a model for similarity assessment and the interdependent design issues of a case representation zind case memory. An interactive CBR model is proposed that by default assists in diagnosis through CBR, but further extends the scope of syndrome database through its learning capability. Acknowledgements I would like to thank a number of people at the department of computer science at UCL. I am particularly grateful to Elpida Keravnou and John Washbrook for their guidcince and support throughout the period of this research. Also, I would also like to express thanks to Derek Long, Felicity Dams and Michael Luck for their invaluable assistance whilst preparing this thesis. This research would not have been possible without the help a number of medical spe­ cialists who have found the time to assist me in my work. For this I am very grateful to Dr. Christine Hall Dr. J. A. Maat-Kient Professor David L. Rimoin and Professor Robin Winter This research has been supported by funding from the Science and Engineering Research Council. ^ Great Ormond Street Hospital, London. ^On temporary visit to the Institute of Child Health, London. ^ Cedars-Sinai Medical Center, UCLA. ^Institute of Child Health, London. C ontents 1 Introduction to Dysmorphology 14 1.1 Thesis O v e rv ie w ..................................................................................................... 14 1.2 An Introduction to Dysmorphology .................................................................... 16 1.3 Down Syndrome (Trisomy 21 Syndrom e) .......................................................... 19 1.3.1 Diagnosticity and Occasional Features ................................................ 21 1.3.2 Additional Diagnostic Information ....................................................... 23 1.3.3 Etiology, Prognosis and Genetic Counseling ........................................ 24 1.4 Performance Tasks in Dysmorphology .............................................................. 25 1.4.1 D iag n o sis .................................................................................................... 25 1.4.2 Research ........................................................................................................ 29 1.5 Conclusions and Goals of the R esearch .............................................................. 31 1.6 S u m m a ry .................................................................................................................. 33 2 Dysmorphology, Computer Systems and AI 35 2.1 Introduction .............................................................................................................. 35 2.2 The London Dysmorphology Database ............................................................. 36 2.2.1 LDDB System Goals ................................................................................. 37 2.2.2 Architecture .............................................................................................. 38 2.2.3 Mode of Operation .................................................................................... 39 2.2.4 Discussion .................................................................................................... 42 2.3 The Skeletal Dysplasia Diagnostician ................................................................. 43 2.3.1 SDD System Goals .................................................................................... 43 2.3.2 Architecture .............................................................................................. 44 2.3.3 Mode of Operation .................................................................................... 46 2.3.4 Discussion .................................................................................................... 48 2.4 Related W ork ............................................. 50 2.4.1 On-Line Databases ..................................................................................... 50 2.4.2 S D R ............................................................................................................... 50 2.4.3 El Busca ..................................................................................................... 51 2.4.4 SYNDROC .................................................................................................. 51 2.4.5 W einer ............................................................................................................ 52 2.4.6 G E N D IA G .................................................................................................. 54 2.4.7 Preus ............................................................................................................ 55 2.4.8 G S .5 2 ............................................................................................................ 56 2.4.9 DYSMOR..................................................................................................... 57 2.4.10 Visual Reference System s ........................................................................ 57 2.4.11 Discussion ..................................................................................................... 58 2.5 Modelling Procedures and Aspects of Dysmorphology ................................ 60 2.6 Case-Based Reasoning and Learning ................................................................. 61 2.6.1 Introduction ............................................................................................... 61 2.6.2 A General CBR Model ............................................................................... 63 2.7 Incremental Concept Formation ............................................................................ 66 2.8 Conclusions and Philosophy of Approach ............................................................ 71 2.9 S u m m a ry.................................................................................................................. 74 Case Representation and Memory Organisation 75 3.1 Introduction ............................................................................................................... 75 3.2 System S o ftw a re ..................................................................................................... 77 3.3 Case Representation ..............................................................................................
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